Familial Breast Cancer Search Strategies September 2012 NATIONAL COLLABORATING CENTRE FOR CANCER

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1 NATIONAL COLLABORATING CENTRE FOR CANCER Clinical Guideline: Familial Breast Cancer Literature summary Question title: A) What is the carrier probability at which genetic testing should be offered to people who are (a) unaffected with a family history of breast/ovarian/related cancer (b)unaffected with a family history and no living relative and (c) affected patients? F) What are the risk thresholds at which genetic testing should be offered to a person with a family history of breast cancer to: 1. Inform future care 2. Initiate genetic tests for their relatives Question no: A and F 1. Literature details and Update details Database name Dates Covered Medline All-10/ Update 10/2011-7/ Premedline All-10/ Update 10/2011-7/ Embase All-10/ Update 10/2011-7/ Cochrane Library All-10/ Update 10/2011-7/ Web of Science (SCI & SSCI) All-10/ Update 10/2011-7/ PsyInfo All-10/ Update 10/2011-7/ Total References (after de-duplication): /11/ /07/ /11/ /07/ /11/ /07/ /11/ /07/ /11/ /07/ /11/ /07/2012 Total References for Update Search (after de-duplication): 110 Medline strategy (This strategy is adapted to each database.) 1. exp breast neoplasms/ 2. exp "Neoplasms, Ductal, Lobular, and Medullary"/ 3. ((breast or mammary) adj3 (cancer$ or tumour$ or tumor$ or neoplas$ or carcinoma$ or adenocarcinoma$ or metasta$ or dcis)).tw or 2 or 3 5. exp ovarian neoplasms/ Page 1 of 35

2 6. (ovar$ adj3 (cancer$ or tumour$ or tumor$ or neoplas$ or carcinoma$ or metasta$)).tw or or 7 9. (familial or (family adj histor$)).tw. 10. (hereditary or inherit$).tw. 11. exp Genetic Predisposition to Disease/ 12. (BRCA1 or BRCA2 or TP53).tw. 13. ((high adj risk) or (increas$ adj risk)).tw. 14. (mutation adj1 risk*).tw. 15. lifetime breast cancer risk*.tw. 16. (mutation adj carrier*).tw. 17. (genetic adj susceptib*).tw. 18. (inherited adj mutation*).tw. 19. or/ and diagnostic genetic test*.tw. 22. predictive genetic test*.tw. 23. (Sanger adj sequenc*).tw. 24. MLPA*.tw. 25. Multiplex Ligation-dependent Probe Amplification*.tw. 26. Genetic Screening/ 27. (probability adj1 threshold*).tw. 28. exp Genetic Testing/ 29. exp Risk Assessment/ 30. or/ and 30 There was no filter applied to the. Page 2 of 35

3 2. Health Economics Search for topic A and F SIGN Health Economics filter was added to. (Other database es were performed by the Swansea University Health Economics team) Database name Medline Update Embase Update No of references /11/ /07/ /11/ /07/2012 Total References (after de-duplication): 96 Total References for Update Search (after de-duplication): 6 3. Any further comments Databases not ed because results would be very unlikely: BNI, AHMED, CINAHL, Biomed. Page 3 of 35

4 NATIONAL COLLABORATING CENTRE FOR CANCER Clinical Guideline: Familial Breast Cancer Literature summary Question title: What are the optimal methods for assessing the carrier probability of a patient at different thresholds for genetic testing in women and men at risk of familial breast cancer? Question no: B 4. Literature details and Update Search detail Database name Dates Covered Medline All-11/ Update Search 11/2011-7/ Premedline All-11/ Update Search 11/2011-7/ Embase All-11/ Update Search 11/2011-7/ Cochrane Library All-11/ Update Search 11/2011-7/ Web of Science (SCI & SSCI) All-11/ Update Search 11/2011-7/ PsyInfo All-11/ Update Search 11/2011-7/ /12/ /07/012 09/12/ /07/012 07/12/ /07/012 09/12/ /07/012 09/12/ /07/012 09/12/ /07/012 Total References (after de-duplication): 232 Total References for Update (after de-duplication): 87 Medline strategy (This strategy is adapted to each database.) 1. exp breast neoplasms/ 2. exp "Neoplasms, Ductal, Lobular, and Medullary"/ 3. ((breast or mammary) adj3 (cancer$ or tumour$ or tumor$ or neoplas$ or carcinoma$ or adenocarcinoma$ or metasta$ or dcis)).tw or 2 or 3 5. exp ovarian neoplasms/ 6. (ovar$ adj3 (cancer$ or tumour$ or tumor$ or neoplas$ or carcinoma$ or metasta$)).tw or or 7 9. (familial or (family adj histor$)).tw. 10. (hereditary or inherit$).tw. Page 4 of 35

5 11. exp Genetic Predisposition to Disease/ 12. (mutation adj1 risk*).tw. 13. lifetime breast cancer risk*.tw. 14. (mutation adj carrier*).tw. 15. (inherited adj mutation*).tw. 16. predictive genetic test*.tw. 17. (probability adj1 threshold*).tw. 18. lifetime risk*.tw. 19. interval risk*.tw. 20. assessment tool*.tw. 21. mutation probability*.tw. 22. cancer risk assessment*.tw. 23. risk estimation tool*.tw. 24. mutation frequenc*.tw. 25. BRCAPRO*.tw. 26. BOADICEA*.tw. 27. Tyrer-Cuzick*.tw. 28. exp Risk Assessment/mt [Methods] 29. exp Genetic Testing/mt [Methods] 30. exp "Predictive Value of Tests"/ 31. exp Models, Statistical/ or 10 or or 13 or 14 or 15 or 16 or 17 or 18 or 19 or 20 or 21 or 22 or 23 or 24 or 25 or 26 or 27 or 28 or 29 or 30 or and and 34 There was no filter applied to the. 5. Health Economics Search for topic B SIGN Health Economics filter was added to. (Other database es were performed by the Swansea University Health Economics team) Database name Medline Update Search No of references /03/ /07/2012 Page 5 of 35

6 Embase Update Search /03/ /07/2012 Total References (after de-duplication): 121 Total References for Update Search (after de-duplication): 5 6. Any further comments Databases not ed because results would be very unlikely: BNI, AHMED, CINAHL, Biomed. Page 6 of 35

7 NATIONAL COLLABORATING CENTRE FOR CANCER Clinical Guideline: Familial Breast Cancer Literature summary Question title: What is the effectiveness of chemoprevention for the reduction of the incidence of breast cancer in women with a family history of breast, ovarian or related (prostate/pancreatic) cancer? Question no: C (parts one and two) 7. Literature details for Part One chemoprevention of familial breast cancer Database name Dates Covered Medline 2003-current /09/2011 Premedline 2003-current /09/2011 Embase 2003-current /09/2011 Cochrane Library 2003-current /09/2011 Web of Science (SCI & SSCI) 2003-current /09/2011 Total References (after duplicates removed): 407 Medline strategy for Part One (This strategy is adapted to each database.) 1. exp breast neoplasms/ 2. exp "Neoplasms, Ductal, Lobular, and Medullary"/ 3. ((breast or mammary) adj3 (cancer$ or tumo?r$ or neoplas$ or carcinoma$ or adenocarcinoma$ or metasta$ or dcis)).tw. 4. or/ exp ovarian neoplasms/ 6. (ovar$ adj3 (cancer$ or tumo?r$ or neoplas$ or carcinoma$ or adenocarcinoma$ or metasta$)).tw or 6 8. exp Prostatic Neoplasms/ 9. (prostat$ adj3 (cancer$ or tumo?r$ or neoplas$ or carcinoma$ or adenocarcinoma$ or metasta$)).tw or exp Pancreatic Neoplasms/ 12. (pancrea$ adj3 (cancer$ or tumo?r$ or neoplas$ or carcinoma$ or adenocarcinoma$ or metasta$)).tw or or 7 or 10 or (familial or family histor$).tw. 16. (heredit$ or inherit$ or predispos$).tw. 17. exp Genetics/ 18. genetic$.tw. 19. (gene or genes or mutation$).tw. 20. Genetic Screening/ 21. exp Genetic Predisposition to Disease/ 22. exp Neoplastic Syndromes, Hereditary/ 23. Genetic Counseling/ Page 7 of 35

8 24. exp Genetic Techniques/ 25. (BRCA1 or BRCA2 or TP53).tw. 26. Genes, BRCA1/ or Genes, BRCA2/ or Genes, p53/ 27. ((high adj risk) or (increas$ adj risk)).tw. 28. or/ and and exp Chemoprevention/ 32. (chemoprevent$ or chemoprophyla$).tw. 33. exp Tamoxifen/ 34. exp Raloxifene/ 35. exp Aromatase Inhibitors/ 36. aromatase inhibitor$.tw. 37. (reduction adj3 (cancer$ or tumo?r$ or neoplas$ or carcinoma$ or adenocarcinoma$ or metasta$)).tw. 38. (exemestane$ or aromasin$).tw. 39. anastr?zol$.tw. 40. letrozol$.tw. 41. or/ and limit 42 to yr="2003 -Current" Notes: As this was an update topic then the date limits were from when the es in the previous guideline finished in A filter to exclude animal studies was added to Embase to reduce the number of hits. Part two: At the request of the GDG, an additional was run considering the adverse effects (as outcome) of tamoxifen in women with breast cancer. An adverse effects filter was used (BMJ Clinical Evidence) see below. 8. Literature details for Part Two Chemoprevention of breast cancer Database name Dates Covered Medline 2003-current /10/2011 Premedline 2003-current /10/2011 Embase 2003-current /10/2011 Cochrane Library 2003-current /10/2010 Web of Science (SCI & SSCI) 2003-current /10/2011 Total References (after duplicates removed): 954 Page 8 of 35

9 9. Medline strategy for Part Two 1. exp Breast Neoplasms/ 2. exp "Neoplasms, Ductal, Lobular, and Medullary"/ 3. Carcinoma, Intraductal, Noninfiltrating/ 4. Carcinoma, Lobular/ 5. Carcinoma, Medullary/ 6. exp mammary neoplasms/ 7. or/ (breast$ adj5 (neoplasm$ or cancer$ or tumo?r$ or carcinoma$ or adenocarcinoma$ or sarcoma$ or leiomyosarcoma$ or dcis or duct$ or infiltrat$ or intraduct$ or lobul$ or medullary or tubular)).tw. 9. (mammar$ adj5 (neoplasm$ or cancer$ or tumo?r$ or carcinoma$ or adenocarcinoma$ or sarcoma$ or leiomyosarcoma$ or dcis or duct$ or infiltrat$ or intraduct$ or lobul$ or medullary or tubular)).tw or or exp Chemoprevention/ 13. (chemoprevent$ or chemoprophyla$).tw. 14. exp Tamoxifen/ 15. tamoxifen.tw. 16. exp Raloxifene/ 17. raloxifene.tw. 18. exp Aromatase Inhibitors/ 19. aromatase inhibitor$.tw. 20. (reduction adj2 (cancer$ or tumo?r$ or neoplas$ or carcinoma$ or adenocarcinoma$ or metasta$)).tw. 21. (exemestane$ or aromasin$).tw. 22. anastr?zol$.tw. 23. letrozol$.tw. 24. or/ and (ae or to or po or co).fs. 27. (safe or safety).tw. 28. side effect$.tw. 29. ((adverse or undesirable or harms$ or serious or toxic) adj3 (effect$ or reaction$ or event$ or outcome$)).tw. 30. exp product surveillance, postmarketing/ 31. exp adverse drug reaction reporting systems/ 32. exp clinical trials, phase iv/ 33. exp poisoning/ 34. exp substance-related disorders/ 35. exp drug toxicity/ 36. exp abnormalities, drug induced/ 37. exp drug monitoring/ 38. exp drug hypersensitivity/ 39. (toxicity or complication$ or noxious or tolerability).tw. Page 9 of 35

10 40. exp Postoperative Complications/ 41. exp Intraoperative Complications/ 42. or/ and limit 43 to yr="2003 -Current" 10. Health Economics es (Other es were performed by the Swansea University Health Economics team) Part One Chemoprevention of familial breast cancer Database name Dates Covered Medline 2003-current /10/2011 Embase 2003-current /10/2011 Total references after duplicates removed: 14 Part Two Chemoprevention of breast cancer with adverse effects filter Database name Dates Covered Medline 2003-current /11/2011 Embase 2003-current /11/2011 Total references after duplicates removed: 87 Update Searches: Part One: Database name Dates Covered Medline /09/ /07/ /07/2012 Embase /09/ /07/ /07/2012 Total references after duplicates removed: 4 Part Two: Database name Dates Covered Medline /09/ /07/ /07/2012 Embase /09/ /07/ /07/2012 Total references after duplicates removed: 4 Page 10 of 35

11 11. Update Searches Part One: Database name Dates Covered Medline 27/09/ /07/ /07/2012 Premedline 27/09/ /07/ /07/2012 Embase 09/ / /07/2012 Cochrane Library 09/ / /07/2012 Web of Science (SCI & SSCI) 09/ / /07/2012 Premedline: 1 new reference added 10/09/2012 Total References (after de-duplication): 35 Part Two: Database name Dates Covered Medline 27/09/ /07/ /07/2012 Premedline 27/09/ /07/ /07/2012 Embase 09/ / /07/2012 Cochrane Library 09/ / /07/2012 Web of Science (SCI & SSCI) 09/ / /07/2012 Premedline: 1 new reference added 10/09/2012 Medline: 1 new reference added 17/09/2012 Embase: 1 new reference added 17/09/2012 Embase: 2 new references added 24/09/2012 Premedline: 2 new references added 24/09/2012 Total number of references (after de-duplication):96 Page 11 of 35

12 NATIONAL COLLABORATING CENTRE FOR CANCER Clinical Guideline: Familial Breast Cancer Literature summary Question title: Specific surveillance needs of women with no personal history of breast cancer Question no: D 12. Literature details Database name Dates Covered Medline 2003-current /11/11 Premedline 2003-current /11/11 Embase 2003-current /11/11 Cochrane Library 2003-current /11/11 Web of Science (SCI & SSCI) 2003-current /12/ study added 10/09/2012 Total References (after de-duplication): 401 Medline strategy (This strategy is adapted to each database.) 1. exp breast neoplasms/ 2. exp "Neoplasms, Ductal, Lobular, and Medullary"/ 3. ((breast or mammary) adj3 (cancer$ or tumour$ or tumor$ or neoplasm$ or carcinoma$ or adenocarcinoma$ or metasta$ or dcis)).tw. 4. or/ exp Ovarian Neoplasms/ 6. (ovar$ adj3 (cancer$ or tumour$ or tumor$ or neoplasm$ or carcinoma$ or metasta$)).tw or or 7 9. (familial or family histor$).tw. 10. (heredit$ or inherit$ or predispos$).tw. 11. exp Genetics/ 12. genetic$.tw. 13. (gene or genes or mutation$).tw. 14. Genetic Screening/ 15. exp Genetic Predisposition to Disease/ 16. exp Neoplastic Syndromes, Hereditary/ 17. Genetic Counseling/ 18. exp Genetic Techniques/ 19. (BRCA1 or BRCA2 or TP53).tw. 20. Genes, BRCA1/ or Genes, BRCA2/ or Genes, p53/ 21. ((high adj risk) or (increas$ adj risk)).tw. 22. or/9-21 Page 12 of 35

13 23. 8 and exp Mammography/ 25. (breast$ and screen$).ti. 26. (mammogra$ or echomammogra$).tw. 27. Ultrasonography, Mammary/ 28. (ultraso$ or sonogra$ or echosonogra$).tw. 29. Magnetic Resonance Imaging/ 30. "magnetic resonance imag$".tw. 31. MRI.tw. 32. ((non-invasive$ or noninvasive$) and (imag$ or diagnos$)).tw. 33. Mass Screening/ 34. surveillance.tw. 35. Physical Examination/ 36. Breast self-examination/ 37. ("physical exam$" or "self exam$" or "self-exam$" or "clinical exam$" or "breast exam$").tw. 38. or/ and limit 39 to yr="2003 -Current" Notes: A date limit of 2003 was applied. No filters were applied. 13. Health Economics es (Other database es were performed by the Swansea University Health Economics team) Database name Dates Covered Medline 1970-current /12/11 Embase 1970-current /12/11 Total references after duplicates removed: Update Searches Database name Dates Covered Medline 23/11/ /07/ /07/2012 Premedline 23/11/ /07/ /07/2012 Embase 11/ / /07/2012 Cochrane Library 11/ / /07/2012 Page 13 of 35

14 Web of Science (SCI & SSCI) 12/ / /07/2012 Medline: 1 new references added 06/09/2012 Medline: 1 new reference added 10/09/2012 Embase: 1 new reference added 10/09/2012 Embase: 1 new reference added 17/09/2012 Embase: 1 new reference added 18/09/2012 Medline: 1 new reference added 24/09/2012 Total references after duplicates removed: 77 Health Economics: Database name Medline /07/2012 Embase /07/2012 Total references after duplicates removed: 4 Page 14 of 35

15 NATIONAL COLLABORATING CENTRE FOR CANCER Clinical Guideline: Familial Breast Cancer Literature summary Question title: What are the risks and benefits of HRT for women under the age of 50, with a BRCA1 or BRCA2 mutation who have undergone a bilateral salpingo-oophorectomy? Question no: E 15. Literature details Database name Dates Covered Medline 1995-current /09/2011 Premedline 1995-current /09/2011 Embase 1995-current /09/2011 Cochrane Library 1995-current /09/2011 Web of Science (SCI & SSCI) 1995-current /09/2011 PsycInfo 1995-current /09/2011 Total References (after de-duplication): 49 Medline strategy (This strategy is adapted to each database.) 1. exp breast neoplasms/ 2. exp "Neoplasms, Ductal, Lobular, and Medullary"/ 3. ((breast or mammary) adj3 (cancer$ or tumour$ or tumor$ or neoplas$ or carcinoma$ or adenocarcinoma$ or metasta$ or dcis)).tw. 4. or/ exp Ovarian Neoplasms/ 6. (ovar$ adj3 (cancer$ or tumour$ or tumor$ or neoplas$ or carcinoma$ or metasta$)).tw or or 7 9. (familial or family histor$).tw. 10. (heredit$ or inherit$ or predispos$).tw. 11. exp Genetics/ 12. genetic$.tw. 13. (gene or genes or mutation$).tw. 14. Genetic Screening/ 15. exp Genetic Predisposition to Disease/ 16. exp Neoplastic Syndromes, Hereditary/ 17. Genetic Counseling/ 18. exp Genetic Techniques/ 19. (BRCA1 or BRCA2 or TP53).tw. 20. Genes, BRCA1/ or Genes, BRCA2/ or Genes, p53/ 21. ((high adj risk) or (increas$ adj risk)).tw. Page 15 of 35

16 22. or/ and Ovariectomy/ 25. (ovariectom$ or oophorectom$).tw. 26. (ovar$ removal or ovar$ surger$ or ovar$ ablat$).tw. 27. (prophylactic adj surger$).tw. 28. or/ and exp Hormone Replacement Therapy/ 31. ((hormon$ or oestrogen$ or estrogen$ or oestradiol or estradiol or progesterone$ or progestin) and replacement).tw. 32. hormone substitution.tw. 33. hrt.tw. 34. ((hormon$ or oestrogen$ or estrogen$ or oestradiol or estradiol or progesterone$ or progestin) adj2 (therap$ or treatment$)).tw. 35. or/ and limit 36 to yr="1995 -Current" Notes: A date limit of 1995 was applied by advice of the GDG, as before 1995 no large scale genetic testing was available. No filters were applied. 16. Health Economics es (Other database es were performed by the Swansea University Health Economics team) Database name Dates Covered Medline 1995-current /09/2011 Embase 1995-current /09//2011 Total references after duplicates removed: Update Searches Database name Dates Covered Medline 05/09/ /07/ /07/2012 Premedline 05/09/ /07/ /07/2012 Embase 09/ / /07/2012 Cochrane Library 09/ / /07/2012 Page 16 of 35

17 Web of Science (SCI & SSCI) 09/ / /07/2012 PsycInfo 09/ / /07/2012 Premedline: 1 new reference added 05/09/2012 Total References (after de-duplication): 6 Health Economics Update Searches: Database name Medline /07/2012 Embase /07/2012 Total References retrived (after de-duplication): 0 Page 17 of 35

18 NATIONAL COLLABORATING CENTRE FOR CANCER Clinical Guideline: Familial Breast Cancer Literature summary Question title: Does knowing the mutation status of a patient prior to treatment impact the rate of uptake of different treatment options and subsequently the outcome of the different treatment options? Question no: G1 18. Literature details Database name Dates Covered Medline 1998-current /02/2012 Premedline 1998-current /02/2012 Embase 1998-current /02/2012 Cochrane Library 1998-current /02/2012 Web of Science (SCI & SSCI) 1998-current /03/2012 Total References (after duplicates removed): 130 Medline strategy (This strategy is adapted to each database.) 1. exp breast neoplasms/ 2. exp "Neoplasms, Ductal, Lobular, and Medullary"/ 3. ((breast or mammary) adj3 (cancer$ or tumour$ or tumor$ or neoplasm$ or carcinoma$ or adenocarcinoma$ or metasta$ or dcis)).tw. 4. or/ exp Ovarian Neoplasms/ 6. (ovar$ adj3 (cancer$ or tumour$ or tumor$ or neoplasm$ or carcinoma$ or metasta$)).tw or or 7 9. (familial or family histor$).tw. 10. (heredit$ or inherit$ or predispos$).tw. 11. exp Genetics/ 12. genetic$.tw. 13. (gene or genes or mutation$).tw. 14. Genetic Screening/ 15. exp Genetic Predisposition to Disease/ 16. exp Neoplastic Syndromes, Hereditary/ 17. Genetic Counseling/ 18. exp Genetic Techniques/ 19. (BRCA1 or BRCA2 or TP53).tw. 20. Genes, BRCA1/ or Genes, BRCA2/ or Genes, p53/ 21. ((high adj risk) or (increas$ adj risk)).tw. 22. or/ and 22 Page 18 of 35

19 24. exp Mastectomy/ 25. mastectom$.tw. 26. mammaplast$.tw. 27. mammoplast$.tw. 28. mammectom$.tw. 29. or/ *Ovariectomy/ 31. (oophorectom$ or salpingooophorectom$).tw or Surgery/ 34. (risk reduc$ adj surger$).tw. 35. (breast conserv$ adj surger$).tw. 36. or/ Antineoplastic Combined Chemotherapy Protocols/ 38. chemotherap$.tw. 39. exp Antineoplastic Agents/ 40. or/ exp Radiotherapy/ 42. radiotherap$.tw. 43. (radiation adj (therap$ or treatment$)).tw. 44. or/ ((therap$ or treatment$) adj adjuvant).tw. 46. Combined Modality Therapy/ or or 32 or 36 or 40 or 44 or and ((breast or mammary) adj3 (cancer$ or tumour$ or tumor$ or neoplasm$ or carcinoma$ or adenocarcinoma$ or metasta$ or dcis)).tw. 51. (primary or first or new or prior).tw and and (mutation$ or BRCA1 or BRCA2 or TP53).tw. 55. (gene$ adj status).tw. 56. exp Mutation/ 57. genes, brca1/ or genes, brca2/ 58. brca1 protein/ or brca2 protein/ 59. Tumor Suppressor Protein p53/tu [Therapeutic Use] 60. Genes, p53/ 61. or/ and 61 Notes: Page 19 of 35

20 19. Health Economics es (Other es were performed by the Swansea University Health Economics team) Database name Dates Covered Medline 1998-current /02/2012 Embase 1998-current /03/2012 Total references ( after duplicates removed): Update Searches Database name Dates Covered Medline 01/02/ /07/ /07/2012 Premedline 01/02/ /07/ /07/2012 Embase 02/ / /07/2012 Cochrane Library 02/ / Web of Science (SCI & SSCI) 02/ / /07/2012 Total references after duplicates removed: 8 Health Economics: Database name Medline /07/2012 Embase /07/2012 Total references after duplicates removed: 0 Page 20 of 35

21 NATIONAL COLLABORATING CENTRE FOR CANCER Clinical Guideline: Familial Breast Cancer Literature summary Question title: Who should discuss the implications of genetic testing with the patient and when is the most appropriate time for such a discussion to occur? Question no: G2 21. Literature details Database name Dates Covered Medline 1996-current /03/2012 Premedline 1996-current /03/2012 Embase 1996-current /04/2012 Cochrane Library 1996-current /03/2012 Web of Science (SCI & SSCI) 1996-current /04/2012 PsycInfo 1996-current /03/2012 CINAHL 1996-current /03/2012 Total References (after duplicates removed): 201 Medline strategy for Part One (This strategy is adapted to each database.) 1. exp breast neoplasms/ 2. exp "Neoplasms, Ductal, Lobular, and Medullary"/ 3. ((breast or mammary) adj3 (cancer$ or tumour$ or tumor$ or neoplasm$ or carcinoma$ or adenocarcinoma$ or metasta$ or dcis)).tw. 4. or/ exp Ovarian Neoplasms/ 6. (ovar$ adj3 (cancer$ or tumour$ or tumor$ or neoplasm$ or carcinoma$ or metasta$)).tw or or 7 9. (familial or family histor$).tw. 10. (heredit$ or inherit$ or predispos$).tw. 11. exp Genetics/ 12. genetic$.tw. 13. (gene or genes or mutation$).tw. 14. Genetic Screening/ 15. exp Genetic Predisposition to Disease/ 16. exp Neoplastic Syndromes, Hereditary/ 17. Genetic Counseling/ 18. exp Genetic Techniques/ 19. (BRCA1 or BRCA2 or TP53).tw. 20. Genes, BRCA1/ or Genes, BRCA2/ or Genes, p53/ 21. ((high adj risk) or (increas$ adj risk)).tw. Page 21 of 35

22 22. or/ and ((breast or mammary) adj3 (cancer$ or tumour$ or tumor$ or neoplasm$ or carcinoma$ or adenocarcinoma$ or metasta$ or dcis)).tw. 25. (primary or first or new).tw and and (mutation$ or BRCA1 or BRCA2 or TP53).tw. 29. (gene$ adj status).tw. 30. genes, brca1/ or genes, brca2/ 31. brca1 protein/ or brca2 protein/ 32. Tumor Suppressor Protein p53/ 33. Genes, p53/ 34. exp Mutation/ 35. or/ and exp Medical Staff/ 38. exp Nurses/ 39. exp Physicians/ 40. exp Family/ 41. Patient Care Team/ or 38 or 39 or 40 or (surgeon$ or specialist$ or doctor$ or physician$ or clinician$ or oncologist$ or MDT$ or nurse$ or health$ worker$ or health$ professional$ or general practioner$ or gp).tw. 44. (geneticist$ or counsel?or$).tw. 45. (famil$ or relati$).tw or 44 or or and Patient Education as Topic/ 50. Attitude of Health Personnel/ 51. Physician-Patient Relations/ 52. Nurse-Patient Relations/ 53. Patient Participation/ 54. exp Patient Satisfaction/ 55. Professional-Family Relations/ 56. exp Decision Making/ 57. exp Ethics, Medical/ 58. (discuss$ or disseminat$ or inform$ or communicat$ or interview$ or counsel$ or talk$ or tell$ or decid$ or decision$ or written or document$).tw. 59. or/ and 59 Page 22 of 35

23 Notes: 22. Health Economics es (Other es were performed by the Swansea University Health Economics team) Database name Dates Covered Medline 1996-current /04/2012 Embase 1996-current /04/2012 Total references ( after duplicates removed): Update Searches Database name Dates Covered Medline 01/02/ /07/ /07/2012 Premedline 01/02/ /07/ /07/2012 Embase 02/ / /07/2012 PsycInfo /07/2012 Cochrane Library 02/ / /07/2012 Web of Science (SCI & SSCI) 02/ / /07/2012 CINAHL 02/ / /07/2012 Premedline: 1 new reference added 31/07/2012 Premedline: 1 new reference added 05/09/2012 Premedline: 1 new reference added 06/09/2012 Total references after duplicates removed: 26 Health Economics: Database name Medline /07/2012 Embase /07/2012 Total references after duplicates removed: 0 Page 23 of 35

24 NATIONAL COLLABORATING CENTRE FOR CANCER Clinical Guideline: Familial Breast Cancer Literature summary Question title: Risk-reducing breast or ovarian surgery: At what level of risk of future primary breast cancer, and in what circumstances, should the option of risk-reducing surgery be discussed? Question no: H1 24. Literature details Database name Dates Covered Medline All dates /02/2012 Premedline All dates /02/2012 Embase All dates /02/2012 Cochrane Library All dates /02/2012 Web of Science (SCI & SSCI) All dates /02/2012 Total References (after duplicates removed): 99 Medline strategy (This strategy is adapted to each database.) 1. exp breast neoplasms/ 2. exp "Neoplasms, Ductal, Lobular, and Medullary"/ 3. ((breast or mammary) adj3 (cancer$ or tumour$ or tumor$ or neoplasm$ or carcinoma$ or adenocarcinoma$ or metasta$ or dcis)).tw. 4. or/ exp Ovarian Neoplasms/ 6. (ovar$ adj3 (cancer$ or tumour$ or tumor$ or neoplasm$ or carcinoma$ or metasta$)).tw or or 7 9. (familial or (family adj histor$)).tw. 10. (hereditary or inherit$).tw. 11. exp Genetics/ 12. genetic$.tw. 13. (gene or genes).tw. 14. Genetic Screening/ 15. exp Genetic Predisposition to Disease/ 16. Genetic Counseling/ 17. exp Genetic Techniques/ 18. (BRCA1 or BRCA2 or TP53).tw. 19. ((high adj risk) or (increas$ adj risk)).tw. 20. or/ and 20 Page 24 of 35

25 22. exp Mastectomy/ 23. mastectom$.tw. 24. mammaplast$.tw. 25. mammoplast$.tw. 26. mammectom$.tw. 27. or/ *Ovariectomy/ 29. (oophorectom$ or ovariectom$ or salpingooophorectom$).tw or ((risk reduc$ or preventive or prophylactic) adj surg$).tw or 30 or and ((breast or mammary) adj3 (cancer$ or tumour$ or tumor$ or neoplasm$ or carcinoma$ or adenocarcinoma$ or metasta$ or dcis) adj3 (diagnos$ or confirm$ or past or histor$ or affect$)).tw and risk$.tw and 36 Notes: No filters were applied. 25. Health Economics es (Other database es were performed by the Swansea University Health Economics team) Database name Dates Covered Medline All dates /02/2012 Embase All dates /02/2012 Total references after duplicates removed: Update Searches Database name Dates Covered Medline 01/02/ /07/ /07/2012 Premedline 01/02/ /07/ /07/2012 Embase 02/ / /07/2012 Cochrane Library 02/ / /07/2012 Web of Science (SCI & SSCI) 02/ /07/2012 Page 25 of 35

26 Premedline: 2 references added 10/09/2012 Total references after duplicates removed: 10 Health Economics: Database name Medline /07/2012 Embase /07/2012 Total references after duplicates removed: 0 Page 26 of 35

27 NATIONAL COLLABORATING CENTRE FOR CANCER Clinical Guideline: Familial Breast Cancer Literature summary Question title: Risk-reducing breast or ovarian surgery: In what circumstances is offering risk-reducing surgery not appropriate? Question no: H2 27. Literature details Database name Dates Covered Medline All dates /01/2012 Premedline All dates /01/2012 Embase All dates /01/2012 Cochrane Library All dates /01/2012 Web of Science (SCI & SSCI) All dates /01/2012 Total References (after duplicates removed): 127 Medline strategy (This strategy is adapted to each database.) 1. exp breast neoplasms/ 2. exp "Neoplasms, Ductal, Lobular, and Medullary"/ 3. ((breast or mammary) adj3 (cancer$ or tumour$ or tumor$ or neoplasm$ or carcinoma$ or adenocarcinoma$ or metasta$ or dcis)).tw. 4. or/ exp Ovarian Neoplasms/ 6. (ovar$ adj3 (cancer$ or tumour$ or tumor$ or neoplasm$ or carcinoma$ or metasta$)).tw or or 7 9. (familial or (family adj histor$)).tw. 10. (hereditary or inherit$).tw. 11. exp Genetics/ 12. genetic$.tw. 13. (gene or genes).tw. 14. Genetic Screening/ 15. exp Genetic Predisposition to Disease/ 16. Genetic Counseling/ 17. exp Genetic Techniques/ 18. (BRCA1 or BRCA2 or TP53).tw. 19. ((high adj risk) or (increas$ adj risk)).tw. 20. or/ and 20 Page 27 of 35

28 22. exp Mastectomy/ 23. mastectom$.tw. 24. mammaplast$.tw. 25. mammoplast$.tw. 26. mammectom$.tw. 27. or/ *Ovariectomy/ 29. (oophorectom$ or ovariectom$ or salpingooophorectom$).tw or ((risk reduc$ or preventive or prophylactic) adj surg$).tw or 30 or and ((breast or mammary) adj3 (cancer$ or tumour$ or tumor$ or neoplasm$ or carcinoma$ or adenocarcinoma$ or metasta$ or dcis) adj3 (diagnos$ or confirm$ or past or histor$ or affect$)).tw and 34 Notes: No filters were applied. 28. Health Economics es (Other database es were performed by the Swansea University Health Economics team) Database name Dates Covered Medline All dates /01/2012 Embase All dates /01/2012 Total references after duplicates removed: Update Searches Database name Dates Covered Medline 01/02/ /07/ /07/2012 Premedline 01/02/ /07/ /07/2012 Embase 02/ / /07/2012 Cochrane Library 02/ / /07/2012 Web of Science (SCI & SSCI) 02/ / /07/2012 Premedline: 2 references added 05/09/2012 Premedline: 1 reference added 10/09/2012 Page 28 of 35

29 Total references after duplicates removed: 34 Health Economics: Database name Medline /07/2012 Embase /07/2012 Total references after duplicates removed: 0 Page 29 of 35

30 NATIONAL COLLABORATING CENTRE FOR CANCER Clinical Guideline: Familial Breast Cancer Literature summary Question title: What are the specific surveillance needs of people with a personal history of breast cancer and a familial risk, who have not undergone a risk reducing mastectomy? Question no: I 30. Literature details Database name Dates Covered Medline 1970-current /11/2011 Premedline 1970-current /11/2011 Embase 1970-current /11/2011 Cochrane Library 1970-current /11/2011 Web of Science (SCI & SSCI) 1970-current /11/2011 Total References (after de-duplication): 109 Medline strategy (This strategy is adapted to each database.) 1. exp breast neoplasms/ 2. exp "Neoplasms, Ductal, Lobular, and Medullary"/ 3. ((breast or mammary) adj3 (cancer$ or tumour$ or tumor$ or neoplasm$ or carcinoma$ or adenocarcinoma$ or metasta$ or dcis)).tw. 4. or/ exp Ovarian Neoplasms/ 6. (ovar$ adj3 (cancer$ or tumour$ or tumor$ or neoplasm$ or carcinoma$ or metasta$)).tw or or 7 9. (familial or (family adj histor$)).tw. 10. (hereditary or inherit$).tw. 11. exp Genetics/ 12. genetic$.tw. 13. (gene or genes).tw. 14. Genetic Screening/ 15. exp Genetic Predisposition to Disease/ 16. Genetic Counseling/ 17. exp Genetic Techniques/ 18. (BRCA1 or BRCA2 or TP53).tw. 19. or/ and Neoplasms, Second Primary/ 22. Neoplasm Recurrence, Local/ Page 30 of 35

31 or exp Breast Neoplasms/ 25. exp "Neoplasms, Ductal, Lobular, and Medullary"/ or and (breast$ adj3 (neoplasm$ or cancer$ or tumo?r$ or carcinoma$ or adenocarcinoma$)).tw. 29. (mammar$ adj3 (neoplasm$ or cancer$ or tumo?r$ or carcinoma$ or adenocarcinoma$)).tw or ("second primar$" or secondary or recurren$ or metachronous or ipsilateral or history).tw and or and exp Mammography/ 36. (breast$ and screen$).ti. 37. mammogra$.tw. 38. Ultrasonography, Mammary/ 39. (ultraso$ or sonogra$ or echosonogra$).tw. 40. Magnetic Resonance Imaging/ 41. "magnetic resonance imag$".tw. 42. MRI.tw. 43. ((non-invasive$ or noninvasive$) and (imag$ or diagnos$)).tw. 44. Mass Screening/ 45. surveillance.tw. 46. Physical Examination/ 47. Breast self-examination/ 48. ("physical exam$" or "self exam$" or "self-exam$" or "clinical exam$" or "breast exam$").tw. 49. or/ and 49 Notes: A date limit of 1970 was applied by advice of the GDG, as before 1970 it is unlikely surveillance studies were published. No filters were applied. 31. Health Economics es (Other database es were performed by the Swansea University Health Economics team) Database name Dates Covered Medline 1970-current /11/2011 Embase 1970-current /11/2011 Total references after duplicates removed: 12 Page 31 of 35

32 32. Update Searches: Database name Dates Covered Medline 21/11/ /07/ /07/2012 Premedline 21/11/ /07/ /07/2012 Embase 11/ / /07/2012 Cochrane Library 11/ / /07/2012 Web of Science (SCI & SSCI) 11/ / /07/2012 Embase: 1 new reference added 17/09/2012 Embase: 1 new reference added 18/09/2012 Total references after duplicates removed: 42 Health Economics: Other database es were performed by the Swansea University Health Economics team) Database name Dates Covered Medline /07/2012 Embase /07/2012 Total references after duplicates removed: 2 Page 32 of 35

33 NATIONAL COLLABORATING CENTRE FOR CANCER Clinical Guideline: Familial Breast Cancer Literature summary Question title: What is the effectiveness of mastectomy compared with breast conserving surgery plus radiotherapy for people with newly diagnosed breast cancer of high grade ductal carcinoma in situ (DCIS) with a TP53 mutation or at high risk of TP53 mutation? Question no: J 33. Literature details Database name Dates Covered Medline 1970-current /01/2012 Premedline 1970-current /01/2012 Embase 1970-current /01/2012 Cochrane Library 1970-current /01/2012 Web of Science (SCI & SSCI) 1970-current /01/2012 Total References (after de-duplication): 15 Medline strategy (This strategy is adapted to each database.) 1. exp breast neoplasms/ 2. exp "Neoplasms, Ductal, Lobular, and Medullary"/ 3. ((breast or mammary) adj3 (cancer$ or tumour$ or tumor$ or neoplasm$ or carcinoma$ or adenocarcinoma$ or metasta$ or dcis)).tw. 4. or/ exp Ovarian Neoplasms/ 6. (ovar$ adj3 (cancer$ or tumour$ or tumor$ or neoplasm$ or carcinoma$ or metasta$)).tw or or 7 9. Tumor Suppressor Protein p53/ 10. Genes, p53/ 11. (TP53 or P53 gene).tw. 12. Li-Fraumeni Syndrome/ 13. or/ and exp Mastectomy/ 16. (mastectomy$ or mammaplast$ or mammoplast$ or mammectom$).tw or (risk reduc$ adj surg$).tw. 19. (breast conserv$ adj surg$).tw. 20. (breast sparing adj surg$).tw. 21. ((local excision or segmental or partial or limited) adj2 (surg$ or resection$ or mastectom$)).tw. Page 33 of 35

34 22. lumpectom$.tw. 23. segmentectom$.tw. 24. or/ exp radiotherapy/ 26. radiotherap$.tw. 27. (radiation adj (therap$ or treatment$)).tw. 28. irradiati$.tw or 26 or 27 or and or and 31 Notes: No filters were applied. 34. Health Economics es (Other database es were performed by the Swansea University Health Economics team) Database name Dates Covered Medline 1970-current /01/12 Embase 1970-current /01/12 Total references after duplicates removed: Update es Database name Dates Covered Medline 09/01/ /07/ /07/2012 Premedline 09/01/ /07/ /07/2012 Embase 01/ / /07/2012 Cochrane Library 01/ / /07/2012 Web of Science (SCI & SSCI) 01/ / /07/2012 Total references after duplicates removed: 1 Health Economics: Database name Page 34 of 35

35 Medline 0 17/07/2012 Embase 0 17/07/2012 Total references after duplicates removed: 0 Page 35 of 35